title: Atrioventricular septal defect in a case of Shwachman-Diamond syndrome.
abstract: Shwachman-Diamond syndrome is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems, including bone, pancreas, and, to a lesser extent, the heart. Myocardial fibrosis, necrosis, and a case of dilated cardiomyopathy have, so far, been described. We report the first case of atrioventricular septal defect in a patient with Shwachman-Diamond syndrome.
authors.affiliation: 1 Institut du Thorax, CHU de Nantes, Université de Nantes, Boulevard Jacques Monod, France.
authors.forename: Laurianne
authors.initials: L
authors.lastname: Le Gloan
authors.affiliation: 2 Service d'Hématologie, CHU de Nantes, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Blin
authors.affiliation: 1 Institut du Thorax, CHU de Nantes, Université de Nantes, Boulevard Jacques Monod, France.
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Langlard
mesh_terms: D001855:Bone Marrow Diseases / Q000150:complications*; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications*; D005260:Female; D006343:Heart Septal Defects / Q000150:complications*; D006801:Humans; D008068:Lipomatosis / Q000150:complications*; D000081003:Shwachman-Diamond Syndrome; D055815:Young Adult